Urbach-Wiethe Syndrome (Rossle-Urbach-Wiethe Syndrome;
Lipoproteinosis; Hyalinosis Cutis et
Mucosae; Lipoid Proteinosis; Proteinosis-Lipoidosis) 747b11h 747b11h 747b11h
General: Rare autosomal recessive disorder in which hyaline material is deposited in the skin, mucous membranes, and brain; both sexes affected; onset in infancy; relatively benign progressive course; association with diabetes mellitus.
Ocular: Margin of eyelids may show beadlike excrescences with loss of cilia; itching of eyes; dry eyes.
Clinical: Skin about face covered with small, yellowish-white, waxy nodules; alopecia; hoarseness of voice at birth or within first few years of life; tongue large, thick; hyper-keratotic lesions on knees, elbows, and fingers; inability to cry; dry mouth.
Cinaz P, et al. Lipoid proteinosis: Urbach-Wiethe disease. Acta Paediatr
Disdier P, et al. Specific xerostomia during Urbach-Wiethe disease. Dermatology 1994; 188:50-51.
Feiler-Ofry V, et al. Lipoid proteinosis (Urbach-Wiethe syndrome). Br J Ophthalmol 1979; 63:694-698.
Urbach E, Wiethe C. Lipoidosis Cutis et Mucosae, Veichous. Arch Pathol Anat 1929; 273:285.
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